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Jennifer L. Sloan

National Institutes of Health

55

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1- 13 C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

2021 Genetics in Medicine
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The natural history of vitamin B12-responsive cobalamin A-type methylmalonic acidemia

2021 Molecular Genetics and Metabolism
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Severity modeling of propionic acidemia using clinical and laboratory biomarkers.

2021 Genetics in Medicine
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The clinical and molecular spectrum of ACSF3 combined malonic and methylmalonic aciduria

2021 Molecular Genetics and Metabolism
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Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency

2021 Molecular Genetics and Metabolism
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Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.

2021 Molecular Genetics & Genomic Medicine
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The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

2020 Human Molecular Genetics
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High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

2019
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Chronic kidney disease in propionic acidemia

2019 Genetics in Medicine
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Table 3. [Molecular Genetic Testing Used in Disorders of Intracellular Cobalamin Metabolism].

2018
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